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ea0084op-08-39 | Oral Session 8: Basic 2 | ETA2022

Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism

Muzza Marina , Gentilini Davide , de Filippis Tiziana , Calzari Luciano , Cristina Vigone Maria , Weber Giovanna , Cassio Alessandra , Olivieri Antonella , Persani Luca

Congenital Hypothyroidism (CH) is the most common congenital endocrine disease and avoidable cause of severe mental retardation. The CH pathogenesis may include the contribution of genetic and environmental factors. However, causal mutations have been found in a minority of cases. Moreover, the elevated frequency of discordance for CH phenotype between monozygotic (MZ) twins suggests the involvement of non-Mendelian mechanisms. Aim of this study was to investigate the role of ...

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ea0035p1007 | Thyroid (non-cancer) | ECE2014

The metabolic syndrome, and not obesity, is associated with fasting TSH in euthyroid obese children and adolescents

Martucci Federico , Magni Serena , Rossetti Paola , Manzoni Giuseppina , Di Candia Stefania , Weber Giovanna , Frittitta Lucia , Bonfanti Riccardo , Perseghin Gianluca

Increased serum TSH has been reported in obese children and adolescents and is considered an adaptive mechanism secondary to obesity. This study was undertaken to test the hypothesis that this adaptation is not associated with obesity per se but with its related metabolic alterations. Using a cross-sectional approach, we collected retrospectively fasting serum TSH concentration (if within the normal range), anthropometric parameters and criteria for the diagnosis of t...

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ea0016p698 | Thyroid | ECE2008

Absence of sonic hedgehog mutations in a large cohort of children with thyroid dysgenesis

Muzza Marina , de Filippis Tiziana , Gastaldi Roberto , Weber Giovanna , Lorini Renata , Beck-Peccoz Paolo , Persani Luca , Fugazzola Laura

Thyroid dysgenesis accounts for 75% of all cases of congenital hypothyroidism (CH), and includes thyroid agenesis or hemiagenesis, thyroid hypoplasia, and thyroid ectopy. Thyroid transcription factors TTF-1, TTF-2 and Pax-8, which are involved in the development of the thyroid gland and its normal migration, have been indicated as the best candidate genes but have been found to be mutated in a minority of cases. Sonic Hedgehog (Shh) protein is involved in several key events du...

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ea0063gp176 | Benign Thyroid Disorders | ECE2019

Do different initial doses of L-T4 within the range of 10–15 mcg/kg/die influence neurodevelopment during the first two years of life in children with congenital hypothyroidism?

Moracas Cristina , Ciccarelli Gian Paolo , Bravaccio Carmela , Cassio Alessandra , Gastaldi Roberto , Mussa Alessandro , Polizzi Miriam , Vigone Maria Cristina , Wasniewska Malgorzata Gabriela , Weber Giovanna , Salerno Mariacarolina

Background: The initial L-T4 dose in the treatment of congenital hypothyroidism (CH) currently recommended is 1015 mcg/kg/die.Objective: We designed a multicenter randomized trial to evaluate the effects of different starting dose of L-T4 within the range 1015 mcg/kg/die on neurocognitive development in children with CH.Methods: Seventy-two children with CH diagnosed by neonatal screening were enrolled in the study. The...

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ea0014oc1.1 | Thyroid clinical | ECE2007

Prevalence of inactivating TSH receptor (TSHR) mutations in a large series of pediatric subjects with non-autoimmune mild hyper-thyrotropinemia (hyperTSH)

Cordella Daniela , Marco Alessandro De , Calebiro Davide , Filippis Tiziana de , Radetti Giorgio , Weber Giovanna , Vigone Maria Cristina , Cappa Marco , Sartorio Alessandro , Busnelli Marta , Bonomi Marco , Chini Bice , Beck-Peccoz Paolo , Persani Luca

Mild hypothyroidism is a heterogeneous and frequent disorder in the general population that is due to autoimmune disease in most of the cases. TSH resistance is considered a rare genetic disease due to germline loss-of-function TSHR mutations. However, TSHR mutations have been mainly searched in patients with large TSH elevations and their actual prevalence among patients with mild TSH elevations (as those found in mild hypothyroidism) is so far unknown. In this study, we eval...

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Endocrine Abstracts

Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism

The metabolic syndrome, and not obesity, is associated with fasting TSH in euthyroid obese children and adolescents

Absence of sonic hedgehog mutations in a large cohort of children with thyroid dysgenesis

Do different initial doses of L-T4 within the range of 10–15 mcg/kg/die influence neurodevelopment during the first two years of life in children with congenital hypothyroidism?

Prevalence of inactivating TSH receptor (TSHR) mutations in a large series of pediatric subjects with non-autoimmune mild hyper-thyrotropinemia (hyperTSH)

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